Y129* (p.Tyr129Ter) variant of C3 (Complement C3)
Y129* (p.Tyr129Ter) in C3 (Complement C3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
Y129* (p.Tyr129Ter) variant details
- p.Tyr129Ter
- rs2145436814
- ClinGen CA403645119
- ClinVar RCV002224681
- ClinVar RCV005863670
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.492
- CADD 36.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available